E17D (p.Glu17Asp) variant of BAX (Apoptosis regulator BAX)
E17D (p.Glu17Asp) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- gnomAD 19-48955564-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.14
- MetaLR 0.07
- MetaSVM -1.09
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available